Maren T Scheuner1, Jane Peredo2, Judith Benkendorf3, Bruce Bowdish3, Gerald Feldman4, Lynn Fleisher5, John J Mulvihill6, Michael Watson3, Gail E Herman7, James Evans8. 1. 1] Division of Medical Genetics, Department of Medicine, VA Greater Los Angeles Healthcare System, Los Angeles, California, USA [2] Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA. 2. Division of Medical Genetics, Department of Medicine, VA Greater Los Angeles Healthcare System, Los Angeles, California, USA. 3. American College of Medical Genetics and Genomics, Bethesda, Maryland, USA. 4. 1] Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, Michigan, USA [2] Department of Pediatrics, Wayne State University School of Medicine, Detroit, Michigan, USA [3] Department of Pathology, Wayne State University School of Medicine, Detroit, Michigan, USA. 5. Sidley and Austin, Chicago, Illinois, USA. 6. Department of Pediatrics, University of Oklahoma, Oklahoma City, Oklahoma, USA. 7. Nationwide Children's Research Institute and Department of Pediatrics, The Ohio State University, Columbus, Ohio, USA. 8. 1] Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA [2] Department of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Abstract
PURPOSE: The aim of this study was to survey American College of Medical Genetics and Genomics members about secondary findings from clinical genome-scale sequencing. METHODS: A Web-based survey was mailed to 1,687 members of the American College of Medical Genetics and Genomics. Exploratory factor analysis identified underlying factors assessed by survey items. Linear regression assessed associations between factor scores and respondent characteristics. RESULTS: The response rate was 29%. Four factors explained 51% of the survey variance: best practices, patient preferences, guidance, and informed consent. Most agreed with "best practice" items describing seeking and reporting of secondary findings as consistent with medical standards, having sufficient evidence, and, for adults, the benefits generally outweighing potential harms. There was lack of agreement regarding benefits versus harms for children and impact on health-care resources. The majority agreed that patient preferences should be considered, including ability to opt out, and that informed consent was feasible and critical. Characteristics significantly associated with factor scores included country of residence, sequencing experience, and years in practice. CONCLUSION: The American College of Medical Genetics and Genomics should update a list of genes to be assessed when clinical genome-scale sequencing is performed. Informed consent is necessary, and reporting of secondary findings should be optional. Research on implementation of secondary findings reporting is needed.
PURPOSE: The aim of this study was to survey American College of Medical Genetics and Genomics members about secondary findings from clinical genome-scale sequencing. METHODS: A Web-based survey was mailed to 1,687 members of the American College of Medical Genetics and Genomics. Exploratory factor analysis identified underlying factors assessed by survey items. Linear regression assessed associations between factor scores and respondent characteristics. RESULTS: The response rate was 29%. Four factors explained 51% of the survey variance: best practices, patient preferences, guidance, and informed consent. Most agreed with "best practice" items describing seeking and reporting of secondary findings as consistent with medical standards, having sufficient evidence, and, for adults, the benefits generally outweighing potential harms. There was lack of agreement regarding benefits versus harms for children and impact on health-care resources. The majority agreed that patient preferences should be considered, including ability to opt out, and that informed consent was feasible and critical. Characteristics significantly associated with factor scores included country of residence, sequencing experience, and years in practice. CONCLUSION: The American College of Medical Genetics and Genomics should update a list of genes to be assessed when clinical genome-scale sequencing is performed. Informed consent is necessary, and reporting of secondary findings should be optional. Research on implementation of secondary findings reporting is needed.
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